HGVS | Genome Assembly |
---|---|
NC_000012.12:g.129162144G>T , CM000674.2:g.129162144G>T | GRCh38 |
NC_000012.11:g.129646689G>T , CM000674.1:g.129646689G>T | GRCh37 |
NC_000012.10:g.128212642G>T | NCBI36 |
NG_052808.1:g.746524C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000422113.7:c.1443+47376C>A MANE Select | ENSP00000408581.2:n.1443+47376C>A | |
ENST00000422113.6:c.1443+47376C>A | ENSP00000408581.2:n.1443+47376C>A | |
ENST00000619366.1:c.1383+47376C>A | ENSP00000478824.1:n.1383+47376C>A | |
NM_133448.2:c.1443+47376C>A | NP_597705.2:n.1443+47376C>A | |
XM_011537894.1:c.1296+47376C>A | XP_011536196.1:n.1296+47376C>A | |
NM_133448.3:c.1443+47376C>A MANE Select | NP_597705.2:n.1443+47376C>A |